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  1. Home /
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  3. Vol 45 No 2 (2014) /
  4. Windows to History

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia

  • Abstract
  • Keywords
  • Author Biography
  • References

Abstract

Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible existence of Maroteaux Lamy syndrome in pre-Columbian pottery 2000 years ago, in the Colombo Ecuadorian Pacific coast of the Tumaco-Tolita culture.

 

Authors

  • Harry Pachajoa Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras. Universidad Icesi, Cali, Colombia
  • Carlos Armando Rodriguez Profesor Titular, Universidad del Valle

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Keywords

  • Mucopolysaccharidosis VI
  • mucopolysaccharidoses
  • history of medicine
  • paleopathology
  • inborn genetic diseases.

Author Biography


, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras. Universidad Icesi, Cali, Colombia
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras.

References

Maroteaux P, Leveque B, Marie J, Lamy M. Une nouvelle dysostose avec elimination urinaire de chondroitine-sulfate B. Presse Med. 1963; 71: 1849–52.

Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet. 2004; 66(3): 208–13.

Pachajoa H, Rodriguez C. Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia. Am J Med Genet A. 2011; 155A: 2327–8.

Pachajoa H, Rodríguez CA. Down’s Syndrome in pre-Hispanic pottery of the Colombia- Ecuador Pacific coast (2000 years ago) Neurologia. 2013; 28(1): 62.

Rodríguez CA, Isaza C, Pachajoa H. Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence. Colomb Med (Cali). 2012; 43(3): 212–5.

Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in western Australia. Am J Med Genet. 2003; 123A: 310–3.

Rosselli D, Rueda J-D, Solano M. Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia. J Med Ethics. 2012; 38(11): 699–700.

Pachajoa H, Ariza Y, Villota V, Miño ME, Acosta-Aragón MA. Distribución geográfica de la mucopolisacridosis tipo VI en el centro del departamento del Cauca ¿es posible un efecto fundador?. Medellín: Editorial; 2013.

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Published
2014-07-03
Submitted
2013-10-21
| 565 |
How to Cite
Pachajoa, H., & Rodriguez, C. (2014). Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. Colombia Médica, 45(2), 85-88. https://doi.org/10.25100/cm.v45i2.1441
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Issue
Vol 45 No 2 (2014)
Section
Windows to History

The copy rights of the articles published in Colombia Médica belong to the Universidad del Valle. The contents of the articles that appear in the Journal are exclusively the responsibility of the authors and do not necessarily reflect the opinions of the Editorial Committee of the Journal. It is allowed to reproduce the material published in Colombia Médica without prior authorization for non-commercial use

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